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dbVar

Database of genomic structural variation

nsv7097489

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:57,497

Description:NC_000007.13:g.(?_144288496)_(144345992_?)del AND Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 195 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):144,591,403-144,648,899

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097489	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	144,591,403	144,648,899
nsv7097489	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_018654715.1	Chr7\|NW_01 8654715.1	641,134	680,662
nsv7097489	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	144,288,496	144,345,992

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789441	deletion	Multiple	Multiple	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency; THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5; Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	Pathogenic	ClinVar	RCV003111486.2, VCV002426750.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789441	Remapped	Pass	NW_018654715.1:g.( ?_641134)_(680662_ ?)del	GRCh38.p12	Second Pass	NW_018654715.1	Chr7\|NW_01 8654715.1	641,134	680,662
nssv18789441	Remapped	Perfect	NC_000007.14:g.(?_ 144591403)_(144648 899_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	144,591,403	144,648,899
nssv18789441	Submitted genomic		NC_000007.13:g.(?_ 144288496)_(144345 992_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	144,288,496	144,345,992

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789441	GRCh37: NC_000007.13:g.(?_144288496)_(144345992_?)del	deletion	germline	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency; THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5; Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	Pathogenic	ClinVar	RCV003111486.2, VCV002426750.2

No genotype data were submitted for this variant

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